Literature DB >> 32067539

Molecular analysis of FMR1 alleles for fragile X syndrome diagnosis and patient stratification.

Daman Kumari1, Karen Usdin1.   

Abstract

Entities:  

Keywords:  CGG repeat; FMR1; FMRP; disease prognosis; fragile X syndrome; mosaic; patient stratification

Mesh：

Substances：

Year:  2020        PMID： 32067539      PMCID： PMC7079815          DOI： 10.1080/14737159.2020.1729744

Source DB:  PubMed          Journal:  Expert Rev Mol Diagn        ISSN： 1473-7159            Impact factor:   5.225


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  31 in total

1.  FMRP expression as a potential prognostic indicator in fragile X syndrome.

Authors:  F Tassone; R J Hagerman; D N Iklé; P N Dyer; M Lampe; R Willemsen; B A Oostra; A K Taylor
Journal:  Am J Med Genet       Date:  1999-05-28

2.  Size and methylation mosaicism in males with Fragile X syndrome.

Authors:  Poonnada Jiraanont; Madhur Kumar; Hiu-Tung Tang; Glenda Espinal; Paul J Hagerman; Randi J Hagerman; Nuanchan Chutabhakdikul; Flora Tassone
Journal:  Expert Rev Mol Diagn       Date:  2017-11       Impact factor: 5.225

Review 3.  Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Authors:  Elizabeth M Berry-Kravis; Lothar Lindemann; Aia E Jønch; George Apostol; Mark F Bear; Randall L Carpenter; Jacqueline N Crawley; Aurore Curie; Vincent Des Portes; Farah Hossain; Fabrizio Gasparini; Baltazar Gomez-Mancilla; David Hessl; Eva Loth; Sebastian H Scharf; Paul P Wang; Florian Von Raison; Randi Hagerman; Will Spooren; Sébastien Jacquemont
Journal:  Nat Rev Drug Discov       Date:  2017-12-08       Impact factor: 84.694

4.  Mosaicism in fragile X affected males.

Authors:  S L Nolin; A Glicksman; G E Houck; W T Brown; C S Dobkin
Journal:  Am J Med Genet       Date:  1994-07-15

5.  Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

Authors:  Bradford Coffee; Krayton Keith; Igor Albizua; Tamika Malone; Julie Mowrey; Stephanie L Sherman; Stephen T Warren
Journal:  Am J Hum Genet       Date:  2009-10       Impact factor: 11.025

6.  Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.

Authors:  David J Amor; David E Godler; Emma K Baker; Marta Arpone; Solange M Aliaga; Lesley Bretherton; Claudine M Kraan; Minh Bui; Howard R Slater; Ling Ling; David Francis; Matthew F Hunter; Justine Elliott; Carolyn Rogers; Michael Field; Jonathan Cohen; Kim Cornish; Lorena Santa Maria; Victor Faundes; Bianca Curotto; Paulina Morales; Cesar Trigo; Isabel Salas; Angelica M Alliende
Journal:  Mol Autism       Date:  2019-05-03       Impact factor: 7.509

7.  Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.

Authors:  Arezoo Movaghar; David Page; Murray Brilliant; Mei Wang Baker; Jan Greenberg; Jinkuk Hong; Leann Smith DaWalt; Krishanu Saha; Finn Kuusisto; Ron Stewart; Elizabeth Berry-Kravis; Marsha R Mailick
Journal:  Sci Adv       Date:  2019-08-21       Impact factor: 14.136

Review 8.  Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP.

Authors:  Joshua A Suhl; Stephen T Warren
Journal:  J Exp Neurosci       Date:  2015-12-08

Review 9.  Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP).

Authors:  Giuseppe LaFauci; Tatyana Adayev; Richard Kascsak; W Ted Brown
Journal:  Genes (Basel)       Date:  2016-12-09       Impact factor: 4.096

Review 10.  Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings.

Authors:  Kristi L Bartholomay; Cindy H Lee; Jennifer L Bruno; Amy A Lightbody; Allan L Reiss
Journal:  Brain Sci       Date:  2019-01-12
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